Hans Rudolf Lytchoff Eiberg
Associate Professor
Medical Genetics Program
Blegdamsvej 3, 2200 København N.
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Autosomal inheritance of diabetes in two families characterized by obesity and a novel H241Q mutation in NEUROD1
Gonsorcíková, L., Pruhová, S., Cinek, O., Ek, J., Pelikánová, T., Jørgensen, T., Eiberg, Hans Rudolf Lytchoff, Pedersen, Oluf Borbye, Hansen, T. & Lebl, J., 2008, In: Pediatric Diabetes. 9, 4 Pt 2, p. 367-72 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel
Rehman, S. U., Baig, S. M., Eiberg, Hans Rudolf Lytchoff, Rehman, S. U., Ahmad, I., Malik, N. A., Tommerup, Niels & Hansen, Lars, 2011, In: Neurogenetics. 12, 3, p. 247-51 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Batten disease maps to chromosome 16
Gardiner, R. M., Eiberg, Hans Rudolf Lytchoff, Mohr, J., Sutherland, G. R., Hyland, V., Romeo, S., Ceccherini, I. & Julier, C., 1991, In: Clinical Genetics. 40, p. 98Research output: Contribution to journal › Journal article › Research › peer-review
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Benchmarking the HLA typing performance of Polysolver and Optitype in 50 Danish parental trios
Matey-Hernandez, M. L., Danish Pan Genome Consortium, D. P. G. C., Brunak, Søren, Izarzugaza, J. M. G., Sørensen, L. M., Petersen, Bent, Sibbesen, Jonas Andreas, Liu, S., Belling, K. G., Have, C. T., Bork-Jensen, J., Sun, J., Hansen, Torben, Krogh, Anders, Sørensen, Thorkild I.A., Pedersen, Oluf Borbye, Wang, J., Eiberg, Hans Rudolf Lytchoff & Kristiansen, Karsten, 2018, In: BMC Bioinformatics. 19, p. 1-12 239.Research output: Contribution to journal › Journal article › Research › peer-review
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Benign Infantile Seizures and Paroxysmal Dyskinesia Caused by an SCN8A Mutation
Gardella, E., Becker, F., Moller, R. S., Schubert, J., Lemke, J. R., Larsen, L. H. G., Eiberg, H., Nothnagel, M., Thiele, H., Altmueller, J., Syrbe, S., Merkenschlager, A., Bast, T., Steinhoff, B., Nuernberg, P., Mang, Y., Moller, L. B., Gellert, P., Heron, S. E., Dibbens, L. M. & 8 others, , Mar 2016, In: Annals of Neurology. 79, 3, p. 428-436Research output: Contribution to journal › Journal article › Research › peer-review
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Blood-based biomarkers of age-associated epigenetic changes in human islets associate with insulin secretion and diabetes
Bacos, K., Gillberg, L., Volkov, P., Olsson, A. H., Hansen, Torben, Pedersen, Oluf Borbye, Gjesing, A. M. P., Eiberg, Hans Rudolf Lytchoff, Tuomi, T., Almgren, P., Groop, L., Eliasson, L., Vaag, Allan, Dayeh, T. & Ling, C., 2016, In: Nature Communications. 7, 13 p., 11089.Research output: Contribution to journal › Journal article › Research › peer-review
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Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression.
Eiberg, Hans Rudolf Lytchoff, Troelsen, J., Boyd, M., Mikkelsen, Annemette Friis, Mengel-From, J., Kjaer, K. W. & Hansen, Lars, 2008, In: Human Genetics. 123, 2, p. 177-87 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses
Sanggaard, K. M., Rendtorff, N. D., Kjær, K. W., Eiberg, Hans Rudolf Lytchoff, Johnsen, T., Gimsing, S., Dyrmose, J., Nielsen, K. O., Lage, K. & Tranebjærg, Lisbeth, 2007, In: European Journal of Human Genetics. 15, 11, p. 1121-1131 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
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CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24
Nielsen, J. E., Koefoed, P., Abell, K., Eiberg, Hans Rudolf Lytchoff, Fenger, K., Niebuhr, E. & Sørensen, S. A., 1997, In: Human Molecular Genetics. Vol. 6, No. 11, p. 1811-1816Research output: Contribution to journal › Journal article › Research › peer-review
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CHEK2 1100delC is prevalent in Swedish early onset familial breast cancer.
Margolin, S., Eiberg, Hans Rudolf Lytchoff, Lindblom, A. & Bisgaard, M. L., 2007, In: BMC Cancer. 7, p. 163Research output: Contribution to journal › Journal article › Research › peer-review
ID: 5291
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Family and population-based studies of variation within the ghrelin receptor locus in relation to measures of obesity
Research output: Contribution to journal › Journal article › Research › peer-review
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1859
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A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
Research output: Contribution to journal › Journal article › Research › peer-review
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393
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Sequencing and de novo assembly of 150 genomes from Denmark as a population reference
Research output: Contribution to journal › Letter › Research › peer-review
Published